A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14623683



Internal ID4020686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124888568..124892015hg38UCSC Ensembl
Innerchr12:124889068..124891515hg38UCSC Ensembl
Outerchr12:124887568..124893015hg38UCSC Ensembl
chr12:125373114..125376561hg19UCSC Ensembl
Innerchr12:125373614..125376061hg19UCSC Ensembl
Outerchr12:125372114..125377561hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383448
hg193448
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631029
Supporting Variants
SamplesHG03673
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14623683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer